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Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.

ABSTRACT: Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disease is the most common cardiovascular condition in this group, present in up to 50% of people with Down syndrome and contributing to poor outcomes. Additional factors contributing to cardiovascular outcomes include pulmonary hypertension; coexistent pulmonary, endocrine, and metabolic diseases; and risk factors for atherosclerotic disease. Moreover, disparities in the cardiovascular care of people with Down syndrome compared with the general population, which vary across different geographies and health care systems, further contribute to cardiovascular mortality; this issue is often overlooked by the wider medical community. This review focuses on the diagnosis, prevalence, and management of cardiovascular disease encountered in people with Down syndrome and summarizes available evidence in 10 key areas relating to Down syndrome and cardiac disease, from prenatal diagnosis to disparities in care in areas of differing resource availability. All specialists and nonspecialist clinicians providing care for people with Down syndrome should be aware of best clinical practice in all aspects of care of this distinct population.

SUBMITTER: Dimopoulos K

PROVIDER: S-EPMC9977420 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.

Dimopoulos Konstantinos K Constantine Andrew A Clift Paul P Condliffe Robin R Moledina Shahin S Jansen Katrijn K Inuzuka Ryo R Veldtman Gruschen R GR Cua Clifford L CL Tay Edgar Lik Wui ELW Opotowsky Alexander R AR Giannakoulas George G Alonso-Gonzalez Rafael R Cordina Rachael R Capone George G Namuyonga Judith J Scott Charmaine H CH D'Alto Michele M Gamero Francisco J FJ Chicoine Brian B Gu Hong H Limsuwan Alisa A Majekodunmi Tosin T Budts Werner W Coghlan Gerry G Broberg Craig S CS

Circulation 20230130 5

Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disease is the most common cardiovascular condition in this group, present in up to 50% of people with Down syndrome and contributing to poor outcomes. Additional factors contributing to cardiovascular outcomes include pulmonary hypertension; coexistent pulmonary, endocrine, and metabolic diseases; and risk factors for atherosclerotic disease. Moreover, disparities in the card ...[more]

PMID: 36716257

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Project description:ObjectiveTo develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome.BackgroundThere are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets. Lack of standardized assessment tools has slowed research in this clinical area.MethodsThe authors performed a two-round traditional Delphi method survey of an international group of clinicians with experience in treating Down syndrome to develop a standardized approach to clinical care and research in this area. Thirty-eight potential panelists who had either previously published on neurocognitive regression in Down syndrome or were involved in national or international working groups on this condition were invited to participate. In total, 27 panelists (71%) represented nine medical specialties and six different countries reached agreement on preliminary standards in this disease area. Moderators developed a proposed nomenclature, diagnostic work up and diagnostic criteria based on previously published reports of regression in persons with Down syndrome.ResultsDuring the first round of survey, agreement on nomenclature for the condition was reached with 78% of panelists agreeing to use the term Down Syndrome Regression Disorder (DSRD). Agreement on diagnostic work up and diagnostic criteria was not reach on the first round due to low agreement amongst panelists with regards to the need for neurodiagnostic testing. Following incorporation of panelist feedback, diagnostic criteria were agreed upon (96% agreement on neuroimaging, 100% agreement on bloodwork, 88% agreement on lumbar puncture, 100% agreement on urine studies, and 96% agreement on "other" studies) as were diagnostic criteria (96% agreement).ConclusionsThe authors present international consensus agreement on the nomenclature, diagnostic work up, and diagnostic criteria for DSRD, providing an initial practical framework that can advance both research and clinical practices for this condition.

Project description:BackgroundDown syndrome (DS) is a genetic condition that involves the deregulation of immune function and is characterized by a proinflammatory phenotype leading to an impaired response to infections. Periodontitis is a highly prevalent chronic inflammatory disease. It has been shown that adults and teenagers with DS are more susceptible to this disease, but a similar correlation in DS children remains elusive. This systematic scoping review aims to address this knowledge gap by examining periodontitis in DS children, with a secondary objective of elucidating the underlying mechanisms involved.MethodsOur primary search was conducted via the PubMed/MEDLINE database and Google Scholar, covering the period from 1951-July 1st, 2024. Primary studies written in English or French were included. The excluded articles were reviews, in vitro or animal studies, studies on teenagers or adults, and studies involving patients with disabilities other than DS. The quality of evidence was assessed via the Newcastle‒Ottawa scale for observational studies and a published tool for evaluating the quality of case reports and case series.ResultsThe initial electronic database search yielded a total of 2431 articles. 58 full-text articles, comprising seven cross-sectional studies, 36 case‒control studies, seven cohort studies, and eight case reports and case series, were included in the review. Compared with healthy children or children with disabilities, DS children appear to have more severe periodontal inflammation. However, the evidence is inconclusive regarding the presence of bone loss, with studies divided on this issue. Local risk and etiopathogenetic factors do not seem to play a significant role in increased inflammation. Instead, this difference could be attributed to the general proinflammatory phenotype of children with DS.ConclusionsDS children seem to have higher periodontal inflammation than other children, but no periodontal bone loss. Investigating periodontal inflammation in DS children could provide valuable insights into the deregulation of immune function in these patients.

Project description:BackgroundConsensus guidelines and recommendations play an important role in fostering quality, safety, and best practices, as they represent an expert interpretation of the biomedical literature and its application to practice. However, it is unclear whether the recent collective experience of implementing telemedicine and the concurrent growth in the evidence base for teledermatology have resulted in more robust guidance.ObjectiveThe objective of this review was to describe the extent and nature of currently available guidance, defined as consensus guidelines and recommendations available for telemedicine in dermatology, with guidance defined as consensus or evidence-based guidelines, protocols, or recommendations.MethodsWe conducted a single-reviewer scoping review of the literature to assess the extent and nature of available guidance, consensus guidelines, or recommendations related to teledermatology. We limited the review to published material in English since 2013, reflecting approximately the past 10 years. We conducted the review in November and December of the year 2022.ResultsWe identified 839 potentially eligible publications, with 9 additional records identified through organizational websites. A total of 15 publications met the inclusion and exclusion criteria. The guidelines focused on varied topics and populations about dermatology and skin diseases. However, the most frequent focus was general dermatology (8/15, 53%). Approximately half of the telemedicine guidance described in the publications was specific to dermatology practice in the context of the COVID-19 pandemic. The publications were largely published in or after the year 2020 (13/15, 87%). Geographical origin spanned several different nations, including Australia, the United States, European countries, and India.ConclusionsWe found an increase in COVID-19-specific teledermatology guidance during 2020, in addition to general teledermatology guidance during the period of the study. Primary sources of general teledermatology guidance reported in the biomedical literature are the University of Queensland's Centre for Online Health and Australasian College of Dermatologists E-Health Committee, and the American Telemedicine Association. There is strong evidence of international engagement and interest. Despite the recent increase in research reports related to telemedicine, there is a relative lack of new guidance based on COVID-19 lessons and innovations. There is a need to review recent evidence and update existing recommendations. Additionally, there is a need for guidance that addresses emerging technologies.

Dataset Information

Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.

Publications

Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.

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